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Literature summary for 3.2.1.76 extracted from
- Three novel alpha-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families (2011), Genet. Mol. Biol., 34, 195-200.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| A79V | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
| D203N | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
| L346R | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
| Q584X | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
| Q60X | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
| R363H | the missense mutation is associated with hepatosplenomegaly, joint stiffness, corneal clouding, and slightly mental delay in mucopolysaccharidosis type I patients and displays 2.3% of wild type activity | Homo sapiens |
| R619G | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
| T364M | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
| W402X | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
| Y343X | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| 4-methylumbelliferyl-alpha-L-iduronide + H2O | - |
Homo sapiens | 4-methylumbelliferone + alpha-L-iduronic acid | - |
? |  |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| alpha-L-iduronidase | - |
Homo sapiens |
| IDUA | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | mucopolysaccharidosis type I arises from a deficiency in the alpha-L-iduronidase enzyme | Homo sapiens |
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Release 2023.1 (January 2023)
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